Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology

CL van Eyk, MC Fahey, J Gecz - Nature Reviews Neurology, 2023 - nature.com
Cerebral palsy is a clinical descriptor covering a diverse group of permanent, non-
degenerative disorders of motor function. Around one-third of cases have now been shown …

Mechanisms of neurotransmitter transport and drug inhibition in human VMAT2

S Pidathala, S Liao, Y Dai, X Li, C Long, CL Chang… - Nature, 2023 - nature.com
Monoamine neurotransmitters such as dopamine and serotonin control important brain
pathways, including movement, sleep, reward and mood. Dysfunction of monoaminergic …

Mouse models for inherited monoamine neurotransmitter disorders

B Thöny, J Ng, MA Kurian, P Mills… - Journal of Inherited …, 2024 - Wiley Online Library
Several mouse models have been developed to study human defects of primary and
secondary inherited monoamine neurotransmitter disorders (iMND). As the field continues to …

Transport and inhibition mechanism for VMAT2-mediated synaptic vesicle loading of monoamines

Y Wang, P Zhang, Y Chao, Z Zhu, C Yang, Z Zhou, Y Li… - Cell research, 2024 - nature.com
Monoamine neurotransmitters such as serotonin and dopamine are loaded by vesicular
monoamine transporter 2 (VMAT2) into synaptic vesicles for storage and subsequent …

Structural mechanisms for VMAT2 inhibition by tetrabenazine

MP Dalton, MH Cheng, I Bahar, J Coleman - Biophysical Journal, 2024 - cell.com
The vesicular monoamine transporter 2 (VMAT2) is a proton-dependent antiporter
responsible for loading monoamine neurotransmitters into synaptic vesicles. Dysregulation …

Synaptic vesicle glycoprotein 2C enhances vesicular storage of dopamine and counters dopaminergic toxicity

ML Bucher, AR Dunn, JM Bradner… - European Journal of …, 2024 - Wiley Online Library
Dopaminergic neurons of the substantia nigra exist in a persistent state of vulnerability
resulting from high baseline oxidative stress, high‐energy demand, and broad unmyelinated …

Phenotypes and genotypes of inherited disorders of biogenic amine neurotransmitter metabolism

M Mastrangelo, M Tolve, C Artiola, R Bove, C Carducci… - Genes, 2023 - mdpi.com
Inherited disorders of biogenic amine metabolism are genetically determined conditions
resulting in dysfunctions or lack of enzymes involved in the synthesis, degradation, or …

Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia

Y Nakamura, IS Shimada, R Maroofian, M Falabella… - Brain, 2024 - academic.oup.com
Patatin-like phospholipase domain-containing lipase 8 (PNPLA8), one of the calcium-
independent phospholipase A2 enzymes, is involved in various physiological processes …

Tricyclic and tetracyclic antidepressants upregulate VMAT2 activity and rescue disease-causing VMAT2 variants

X Wang, I Marmouzi, PSB Finnie, ML Bucher… - …, 2024 - nature.com
Abstract Vesicular monoamine transporter 2 (VMAT2) is an essential transporter that
regulates brain monoamine transmission and is important for mood, cognition, motor activity …

Dystonia genes and their biological pathways

A Di Fonzo, HA Jinnah, M Zech - International Review of Neurobiology, 2023 - Elsevier
High-throughput sequencing has been instrumental in uncovering the spectrum of
pathogenic genetic alterations that contribute to the etiology of dystonia. Despite the …